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Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab073
Abstract: Previously, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Hallmark features of these diseases include the build-up of insoluble protein aggregates as…
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Keywords:
sfpq;
causing mutation;
ftd causing;
cyclin ... See more keywords